Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The cholesterin content, total content and phsopholipid composition were studied in sarcolemma of normal rabbits and those with experimental muscular dystrophy. The total content of phospholipids in the sarcolemma of young normal rabbits is 4.8 mg of phosphorus per 1 mg of protein which is higher than that in the sarcolemma of adult rabbits 33%. With experimental muscular dystrophy the content of cholesterin is 2.7 as high as its content in the sarcolemma of the normal rabbits. It is established that the content of phosphatidilserine in the sarcolemma of young normal rabbits is by 61% higher than that in adult animals. The content of phosphatidilserine of lysophosphatidilcholine decreases by 40 and 39%, respectively, with dystrophy. The content of phosphatidilcholine increases by 16% as compared with sarcolemma extracted from the muscles of the young normal rabbits. Molar ratio of phospholipid/cholesterine in the sarcolemma of normal rabbits is 1.8 and decreases with the experimental muscular dystrophy to 0.75.
 ...
PMID:[Lipid levels in rabbit sarcolemma normally and during experimental muscular dystrophy]. 120 95

The distribution of purine compounds in the skeletal muscles of the anterior and posterior limbs of 129/Re mice with hereditary muscular dystrophy (HMD) was investigated in a comparative study. The results revealed unidirectional metabolic disorders in both groups of muscles which was manifested in a quantitative redistribution of phosphorus-containing purine components and a decrease in the pool of adenylates in muscle tissue. Elevated concentrations of purine metabolites (inosine, hypoxanthine, xanthine, and uric acid) indicated an augmented metabolism of purines in this abnormality. Impairment of metabolic transformations of purines in the muscle tissue in HMD may be one of the factors responsible for the development of the pathological process in the muscle in the given disease.
 ...
PMID:[Destruction of muscle tissue and purine compound metabolism in hereditary muscular dystrophy]. 381 26

31P nuclear magnetic resonance (NMR) was used to investigate the resting energy metabolism of the calf muscle in boys with Duchenne's muscular dystrophy. Reductions in the phosphocreatine/adenosine triphosphate (PCr/ATP) and the PCr/Pi ratios were found, but ATP as a fraction of the total mobile phosphorus signal was not reduced, and intracellular pH was normal in the Duchenne muscle. Attempts at quantitation of the NMR signal suggested that the reduced total phosphorus signal seen in the Duchenne muscle was a result of muscle fiber loss only and that the muscle fiber ATP concentration was probably normal in the diseased tissue. An exercise study in one 7-year-old boy with Duchenne's dystrophy demonstrated that the muscle had a normal ability to break down and resynthesize phosphocreatine. Presented here are the first reported trials of the effects of two putative therapeutic agents on energy metabolism determined by NMR in Duchenne's muscular dystrophy.
 ...
PMID:Muscle energy metabolism in Duchenne dystrophy studied by 31P-NMR: controlled trials show no effect of allopurinol or ribose. 393 26

The forearm flexor muscles of five patients with Becker's dystrophy were examined by the painless and noninvasive technique of high resolution phosphorus nuclear magnetic resonance spectroscopy. In the mildly affected cases, the ratios of the signals of phosphocreatine to ATP and to inorganic phosphate were normal but they were reduced in the patients with advanced disease. Absolute quantitation under the conditions of the study was not feasible, but it was probable that whereas in advanced Becker's dystrophy the intramyocellular concentration of phosphocreatine was reduced, that of ATP was unchanged. The intramyocellular pH was normal in three of the four patients in whom this could be measured and an additional unidentified signal between those of phosphocreatine and inorganic phosphate was recorded in two patients. This study emphasizes some metabolic similarities between Becker's and Duchenne type muscular dystrophy and suggests that nuclear magnetic resonance spectroscopy may be a useful and objective technique with which to investigate the biochemistry of these and other muscle diseases.
 ...
PMID:An in vivo study of muscle phosphate metabolism in Becker's dystrophy by 31P NMR spectroscopy. 402 5

Twenty-eight Holstein heifer calves were allotted at birth to one of four treatments: 1) 0 mg, 2) 1,400 mg, or 3) 2,800 mg of dl-alpha-tocopherol acetate given orally at weekly intervals, or 4) 1,400 IU of dl-alpha-tocopherol weekly by intramuscular injection in order for us to study their performance and metabolic profile. Calves were fed milk at 8% of birth weight until they were weaned at 6 wk of age and fed a complete calf starter ad libitum from birth. Calves were on experiment for 12 wk. There were no significant differences in weekly weight gains, starter consumption, and fecal scores among treatments. However, there was a trend toward greater starter consumption and weight gains in supplemental calves. Serum alpha-tocopherol concentration measured after 7 d of each administration was significantly higher at wk 4 in calves given the high oral supplementation and at wk 2, 4, 6, and 8 higher in injected calves than in unsupplemented calves. Creatine kinase activity was higher in unsupplemented calves and negatively correlated with serum alpha-tocopherol until wk 8, suggesting preclinical muscular dystrophy. Alkaline phosphatase activity was higher with the high oral supplementation. Serum carbon dioxide values showed a trend toward positive correlation with those for serum tocopherol; however, the values were within normal range. There were no significant differences in creatinine, glucose, phosphorus, calcium, urea nitrogen, chloride, sodium, potassium, albumin, and total protein among treatments. Serum glucose was higher in all calves at wk 10 and 12 than at wk 4, 6, and 8. Calves may not get enough vitamin E with conventional calf starters, and supplementation may be essential to obtain maximum performance.
 ...
PMID:Effects of supplemental vitamin E on the performance and metabolic profiles of dairy calves. 406 45

Exercise intolerance, sometimes complicated by rhabdomyolysis is a frequent complaint of patients consulting in neuromuscular centers. It may be the main clinical manifestation of many metabolic myopathies and muscular dystrophies. The first step of diagnosis relies on the performance of in vivo metabolism investigations: forearm or bicycle ergometer exercise tests, phosphorus nuclear magnetic resonance spectroscopy. A few enzymatic defects may be directly assessed on blood samplings, in particular carnitine palmitoyltransferase deficiency; but muscle biopsy is necessary in most cases in order to precise the etiology. When CK levels are elevated at rest, a muscle CT scan should be performed in order to detect muscles fatty replacement suggestive of a muscular dystrophy; this diagnosis will be confirmed with immunohistochemical and western-blot analysis of muscle proteins. We present a description of the main metabolic myopathies manifesting by exercise intolerance with an overview of clinical and laboratory evaluation leading to diagnosis. Differential diagnosis are also discussed.
 ...
PMID:[Exercise-intolerance and exercise-induced rhabdomyolisis: etiology and diagnosis]. 1503 80